Isolated Arrhinia |
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Aplasia of the nose, Hypoplasia of the nasal bone, Aplasia/Hypoplasia of the nasal septum, Absent... |
ORPHA:1134 |
Holoprosencephaly 4 |
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Depressed nasal bridge, Depressed nasal tip, Absent nasal septal cartilage |
OMIM:142946 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
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Absent nasal septal cartilage, Depressed nasal ridge, Meningocele |
ORPHA:2003 |
Holoprosencephaly 7 |
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Hypoplasia of the premaxilla, Depressed nasal tip, Flat nasal alae, Short nose, Absent nasal sept... |
OMIM:610828 |
Boomerang Dysplasia |
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Severe short stature, Hypoplastic nasal septum, Neonatal death, Underdeveloped nasal alae, Wide n... |
OMIM:112310 |
Holoprosencephaly 2 |
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Aplasia of the nasal bone, Aplasia of the premaxilla, Absent nasal septal cartilage, Proboscis |
OMIM:157170 |
Acitretin/Etretinate Embryopathy |
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Anteverted nares, Micrognathia, Hypoplastic nasal septum, Aplasia/Hypoplasia of the maxilla |
ORPHA:40366 |
Chondrodysplasia Punctata, Autosomal Dominant |
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Hip contracture, Moderate postnatal growth retardation, Hypoplasia of the nasal bone, Knee flexio... |
OMIM:118650 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
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Craniosynostosis, Osteopenia, Depressed nasal bridge, Short nose, Postnatal growth retardation, I... |
OMIM:614732 |
Dermatosparaxis Ehlers-Danlos Syndrome |
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Joint stiffness, Severe short stature, Retrognathia, Osteopenia, Depressed nasal bridge, Microgna... |
ORPHA:1901 |
Hypophosphatasia, Adult |
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Recurrent fractures, Osteomalacia, Pathologic fracture, Carious teeth, Increased susceptibility t... |
OMIM:146300 |
Multiple Synostoses Syndrome 1 |
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Carpal synostosis, Proximal/middle symphalangism of 4th toe, Hypoplastic nasal septum, Wide nasal... |
OMIM:186500 |
Vitamin D-Dependent Rickets, Type 2A |
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Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Wide nasal bridge, ... |
OMIM:277440 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
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Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Hypophosphatemic Rickets, Autosomal Dominant |
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Hypophosphatemic rickets, Osteomalacia, Rickets, Short stature |
OMIM:193100 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
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Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Thin bony co... |
OMIM:600785 |
Hypophosphatemic Bone Disease |
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Osteomalacia, Rickets, Short stature |
OMIM:146350 |
Usher Syndrome, Type Ig |
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Hypoplasia of the nasal bone |
OMIM:606943 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
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Osteopenia, Epistaxis, Rickets, Short stature |
OMIM:211600 |
Hypocalcemic Vitamin D-Dependent Rickets |
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Delayed epiphyseal ossification, Sparse bone trabeculae, Short stature, Osteomalacia, Delayed eru... |
ORPHA:289157 |
Autosomal Dominant Hypophosphatemic Rickets |
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Tooth abscess, Growth delay, Osteomalacia, Rickets |
ORPHA:89937 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
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Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Delayed eruption of... |
OMIM:264700 |
Fanconi Renotubular Syndrome 2 |
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Osteopenia, Rickets, Short stature |
OMIM:613388 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
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Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Thin bony cortex, G... |
OMIM:600081 |
Hypophosphatemic Rickets, X-Linked Recessive |
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Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... |
OMIM:300554 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
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Hypophosphatemic rickets, Short stature, Reduced bone mineral density, Osteomalacia, Pathologic f... |
ORPHA:157215 |
Neu-Laxova Syndrome |
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Flexion contracture, Depressed nasal ridge, Retrognathia, Osteopenia, Micrognathia, Osteomalacia,... |
ORPHA:2671 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
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Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... |
OMIM:241530 |
Hypophosphatemic Rickets, X-Linked Dominant |
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Hypophosphatemic rickets, Short stature, Osteoarthritis, Osteomalacia, Enamel hypomineralization,... |
OMIM:307800 |
Hypocalcemic Vitamin D-Resistant Rickets |
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Recurrent fractures, Bone cyst, Short stature, Osteomalacia, Abnormal bone structure, Osteolysis,... |
ORPHA:93160 |
Autosomal Recessive Hypophosphatemic Rickets |
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Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Increased bone mineral de... |
ORPHA:289176 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
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Growth delay, Rickets |
OMIM:602722 |
Fanconi Renotubular Syndrome 3 |
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Growth delay, Rickets, Short stature |
OMIM:615605 |
Infantile Systemic Hyalinosis |
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Recurrent fractures, Joint stiffness, Severe short stature, Osteopenia, Camptodactyly of finger, ... |
ORPHA:2176 |
Sponastrime Dysplasia |
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Delayed epiphyseal ossification, Intrauterine growth retardation, Ivory epiphyses of the phalange... |
ORPHA:93357 |
Cystinosis |
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Delayed puberty, Polydipsia, Rickets, Short stature |
ORPHA:213 |
Fanconi Renotubular Syndrome 1 |
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Osteomalacia, Rickets, Short stature |
OMIM:134600 |
Fibrous Dysplasia Of Bone |
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Fibrous dysplasia of the bones, Short stature, Osteomalacia, Thin bony cortex, Abnormal bone stru... |
ORPHA:249 |
Dent Disease 1 |
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Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Short stature, Oste... |
OMIM:300009 |
X-Linked Hypophosphatemia |
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Growth delay, Craniosynostosis, Reduced bone mineral density, Arthritis, Vertebral hyperostosis, ... |
ORPHA:89936 |
Axial Osteomalacia |
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Osteomalacia, Increased bone mineral density |
OMIM:109130 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
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Rickets, Short stature |
OMIM:611590 |
Disorder Of Bile Acid Synthesis |
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Rickets |
ORPHA:79168 |
Vexas Syndrome |
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Nasal chondritis, Chondritis of pinna, Arthritis |
OMIM:301054 |
Bile Acid Conjugation Defect 1 |
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Rickets |
OMIM:619232 |
Renal Tubular Acidosis Iii |
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Osteomalacia, Rickets |
OMIM:267200 |
Hypercholanemia, Familial 1 |
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Rickets |
OMIM:607748 |
Mccune-Albright Syndrome |
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Recurrent fractures, Monostotic fibrous dysplasia, Dental malocclusion, Fibrous dysplasia of the ... |
ORPHA:562 |
Celiac Disease, Susceptibility To, 1 |
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Short stature, Osteoporosis, Enamel hypoplasia, Delayed puberty, Postnatal growth retardation, Ri... |
OMIM:212750 |
Acrodysostosis With Multiple Hormone Resistance |
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Depressed nasal bridge, Hypoplasia of the nasal bone, Anteverted nares, Mandibular prognathia, Mi... |
ORPHA:280651 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
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Osteoporosis, Rickets |
OMIM:560000 |
Hypophosphatemic Rickets |
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Joint stiffness, Fibrous dysplasia of the bones, Periapical tooth abscess, Osteomalacia, Patchy v... |
ORPHA:437 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Postnatal growth retardation, Rickets |
ORPHA:79303 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Bulbous nose, Severe short stature, Abnormally ossified vertebrae, Retrognathia, Osteopenia, Long... |
ORPHA:2636 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
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Recurrent fractures, Rickets, Short stature |
OMIM:268315 |
Renal Tubular Acidosis, Distal, 1 |
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Osteomalacia, Pathologic fracture |
OMIM:179800 |
Hypophosphatemic Rickets And Hyperparathyroidism |
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Hypophosphatemic rickets, Rickets, Short stature |
OMIM:612089 |
Fanconi-Bickel Syndrome |
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Osteopenia, Growth delay, Rickets |
ORPHA:2088 |
Distal Renal Tubular Acidosis |
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Polydipsia, Reduced bone mineral density, Short stature, Osteomalacia, Increased susceptibility t... |
ORPHA:18 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
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Rickets, Short stature |
OMIM:616026 |
Occipital Horn Syndrome |
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Abnormality of the sense of smell, Osteopenia, Osteomalacia, Osteoporosis, Synostosis of joints, ... |
ORPHA:198 |
Dent Disease |
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Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Thin ... |
ORPHA:1652 |
Wilson Disease |
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Hyposmia, Osteoarthritis, Osteomalacia, Osteoporosis, Joint hypermobility, Dysphagia |
OMIM:277900 |
Pancreatic Triacylglycerol Lipase Deficiency |
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Growth delay, Osteomalacia, Osteoporosis, Rickets |
ORPHA:309031 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Rickets |
OMIM:607765 |
Oculocerebrorenal Syndrome Of Lowe |
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Recurrent fractures, Joint stiffness, Taurodontia, Short stature, Micrognathia, Osteomalacia, Del... |
ORPHA:534 |
Infantile Nephropathic Cystinosis |
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Growth delay, Polydipsia, Rickets |
ORPHA:411629 |
Fanconi-Bickel Syndrome |
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Osteomalacia |
OMIM:227810 |
Cystinosis, Nephropathic |
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Polydipsia, Hypophosphatemic rickets, Short stature, Delayed puberty, Dysphagia, Growth delay, Ri... |
OMIM:219800 |
Lowe Oculocerebrorenal Syndrome |
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Joint contracture of the hand, Short stature, Camptodactyly of finger, Osteomalacia, Pathologic f... |
OMIM:309000 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
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Rickets |
OMIM:219900 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Reduced bone mineral density, Short stature, Osteopenia, Thin bony cortex, Joint laxity, Growth d... |
OMIM:613658 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Osteomalacia |
OMIM:600740 |
Primary Fanconi Renotubular Syndrome |
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Growth delay, Hypophosphatemic rickets, Osteomalacia, Increased susceptibility to fractures |
ORPHA:3337 |
Generalized Arterial Calcification Of Infancy |
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Hypophosphatemic rickets, Calcification of the auricular cartilage, Osteomalacia, Abnormal calcif... |
ORPHA:51608 |
Familial Hypocalciuric Hypercalcemia |
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Osteomalacia |
ORPHA:405 |
Immunodeficiency 82 With Systemic Inflammation |
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Osteomyelitis, Osteomalacia, Arthritis |
OMIM:619381 |